C1QC c.*5G>A

Variant ID: 1-22974281-G-A

NM_172369.3(C1QC):c.*5G>A

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

C1QA and C1QC modify age-at-onset in familial amyloid polyneuropathy patients.

Annals Of Clinical And Translational Neurology
Dias, Andreia A; Santos, Diana D; Coelho, Teresa T; Alves-Ferreira, Miguel M; Sequeiros, Jorge J; Alonso, Isabel I; Sousa, Alda A; Lemos, Carolina C
Publication Date: 2019-04

Variant appearance in text: rs200952686
PubMed Link: 31019999
Variant Present in the following documents:
  • Main text
  • ACN3-6-748.pdf
View BVdb publication page